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Page 1
Dominant inheritance of optic pits.
Ragge NK, Ravine D, Wilkie AO. Ragge NK, et al. Among authors: ravine d. Am J Ophthalmol. 1998 Jan;125(1):124-5. doi: 10.1016/s0002-9394(99)80255-4. Am J Ophthalmol. 1998. PMID: 9437334 No abstract available.
NTNG1 mutations are a rare cause of Rett syndrome.
Archer HL, Evans JC, Millar DS, Thompson PW, Kerr AM, Leonard H, Christodoulou J, Ravine D, Lazarou L, Grove L, Verity C, Whatley SD, Pilz DT, Sampson JR, Clarke AJ. Archer HL, et al. Among authors: ravine d. Am J Med Genet A. 2006 Apr 1;140(7):691-4. doi: 10.1002/ajmg.a.31133. Am J Med Genet A. 2006. PMID: 16502428 Free PMC article.
Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.
Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, Williamson S, Charman T, Bailey ME, Sampson J, de Klerk N, Clarke A. Archer H, et al. Among authors: ravine d. J Med Genet. 2007 Feb;44(2):148-52. doi: 10.1136/jmg.2006.045260. Epub 2006 Aug 11. J Med Genet. 2007. PMID: 16905679 Free PMC article.
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).
Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, Elles R, Fossdal R, Bogdanova N, van Dijk MA, Coto E, Ravine D, Nørby S, Verellen-Dumoulin C, Breuning MH, Somlo S, Peters DJ. Veldhuisen B, et al. Among authors: ravine d. Am J Hum Genet. 1997 Sep;61(3):547-55. doi: 10.1086/515497. Am J Hum Genet. 1997. PMID: 9326320 Free PMC article.
Familial phenotype differences in PKD11.
Hateboer N, Lazarou LP, Williams AJ, Holmans P, Ravine D. Hateboer N, et al. Among authors: ravine d. Kidney Int. 1999 Jul;56(1):34-40. doi: 10.1046/j.1523-1755.1999.00541.x. Kidney Int. 1999. PMID: 10411677 Free article.
84 results